Article
The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report.
BMC cardiovascular disorders - 16 Jul 2025
Han Yuanyuan, Wang Haiyan, Zhang Hongsheng, Wang Manman, Gan Lijun, Meng Fanhua
Abstract excerpt
This study reports on a Chinese Han cardiomyopathy family line carrying the MYH7 c.2770G > A (p.Glu924Lys) mutation. This mutation has been shown to result in cross-generational phenotypic heterogeneity between hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM). The proband was a 17-year-old male diagnosed with hypertrophic obstructive cardiomyopathy (HOCM) due to post-exercise syncope, which...
Topics
- Humans
- Cardiac Myosins
- Male
- Myosin Heavy Chains
- Phenotype
- Adolescent
- Pedigree
- Genetic Predisposition to Disease
- Cardiomyopathy, Restrictive
- Cardiomyopathy, Hypertrophic